Official release of phase3 alignment data is available
The official release of phase3 low coverage and exome data is completed and available on the ftp site. The alignment data were generated by Sanger Center. All BAMs have gone through the DCC QA process;...
View ArticleComplete Genomics Data Release
The CG data for 427 samples are available now at:ftp://ftp.1000genomes.ebi.ac.uk/vol1/ftp/dataOf the 427 samples, 6 samples of the PUR trio and KHV trio were sequenced in both blood and LCL thus the...
View ArticlePhase3 lossy CRAMs available now
Lossy CRAMs for mapped phase3 BAMs are available now on the ftp site:ftp://ftp.1000genomes.ebi.ac.uk/vol1/ftp/dataIn these lossy crams, the quality scores were binned according to Illumina 8-binning...
View ArticleShapeIt2 phased haplotypes for the Phase1 integrated variant calls
Olivier Delaneau and Jonathan Marchini have provided improved haplotypes for the phase1 integrated call set on the autosomes generated using...
View ArticleIntegrative Annotation of Variants from 1092 Humans: Application to Cancer...
The Functional Analysis group from the 1000 Genomes Project Consortium have published its findings based on the Phase 1 integrated analysis in Science today. The functional annotation itself is...
View Article#ASHG13 1000 Genomes Project Tutorial, October 23rd, Boston Convention &...
The 1000 Genomes project is giving a tutorial during ASHG 2013 in Boston. This meeting is free for the public to attend.This meeting is free for the public to attend but we ask that you register so we...
View ArticleNew version of the 1000 Genomes ensembl browser #ASHG13
Our 1000 Genomes Browser has been updated to contain Ensembl v73. This contains the majority of the Phase 1 Integrated release.You can find our tutorial here.
View ArticleCell lines and DNA samples and panels are available from the Coriell Cell...
All the samples from the 1000 genomes are available as lymphoblastoid cell lines (LCLs) and LCL derived DNA from the Coriell Cell Repository as part of the NHGRI Catalog. In addition Standard...
View Article1000 Genomes Project and Beyond
1000 Genomes Project and Beyond 24-26 June 2014 Churchill College, Cambridge, UK This Wellcome Trust conference will focus on advances enabled by the 1000 Genomes Project, including the new directions...
View ArticleThe 1000 Genomes FTP site now available through Globus Online
The 1000 Genomes FTP site is now available as an endpoint in the Globus Online service.The endpoint name is ebi#1000genomes Our FAQ has more details about how to access the data via Globus.
View ArticleThe Initial Phase 3 variant list and phased genotypes
The initial call set from the 1000 Genomes Project Phase 3 analysis is now available on our ftp site in the directory release/20130502/.These release contains more than 79 million variant sites and...
View ArticleThe Allele Frequency Calculator #1000GB
We have created a new tool to calculate population specific allele frequencies. The Allele Frequency Calculator will calculate and provide a table of population specific allele frequencies from a vcf...
View ArticleThe Phase 3 Variant set with additional allele frequencies, functional...
Our final release of the Phase 3 variant set is now available on the FTP site. This update represents version 5 of our release. The issues which have been resolved since our initial release are covered...
View Article#ASHG14 1000 Genomes Tutorial, Sunday October 19, 8 - 9:30 pm, Convention...
The 1000 Genomes project is holding a tutorial during ASHG 2014.The 1000 Genomes Project has released the variants, genotypes, and integrated haplotypes for the complete set of 2504 samples from 26...
View ArticleChromosome X variants added to the final release #ASHG14
We have now added a set of Chromosome X variants as part of our final release.The genotypes and sites are available in our main release directory.We will update the file during November. We need to add...
View ArticleShort Tandem Repeats added to the 1000 Genomes Release #ASHG14
We have added two sets of STR predictions and genotypes to the 1000 Genomes dataset.These are available in the supporting directory strs. The call set were created using LobSTR and RepeatSeq...
View ArticlePhase3 variant calls for chrY are available, variant calls for chrX have been...
Our final release of the Phase 3 variant set is now available on the FTP site, including a newly added VCF file for chrY. The chrY variant calls were made with a different process from that of the...
View ArticlePhase 3 Imputation Panels from Beagle, Mach and Impute2
Imputation panels based on the Phase 3 release are now available from Beagle, Mach and Impute2
View ArticleEMBL-EBI 1000 Genomes FTP site will be at reduced capacity between November...
The EMBL-EBI FTP site will be at reduced capacity between November 21st and December 8th due to EMBL-EBI wconsolidating its web infrastructure into a single data centre.Please use the NCBI FTP site in...
View ArticlePhase3 alignment BAM files and sequence read fastq files have been moved
In preparation for publication of the phase3 manuscript, we have moved all phase3 BAM files and fastq files...
View ArticleOur plan to rearrange the 1000 Genomes FTP site
Starting from the 14th September, we plan to rearrange the 1000 Genomes FTP site to reflect our on going efforts to provide support for the data generated by the 1000 Genomes Project and other data...
View Article#ASHG2015 The 1000 Genomes Data Tutorial - 8th October, 7-9pm Baltimore...
The 1000 Genomes Project is holding a tutorial giving and overview of the 1000 Genomes Project, how to access the data and explaining different use cases for the data.This tutorial will be held in the...
View ArticleA global reference for human genetic variation
The Phase 3 publication, A global reference for human genetic variation and the Phase 3 Structural variation publication, An integrated map of structural variation in 2,504 human genomes are now...
View ArticlePhase3 Mitochondrial Chromosome Variants now available
Mitochondrial chromosome variants are now available for the Phase 3 individuals from our FTP siteFor any more information about the variants or the rest of the dataset please email info@1000genomes.org
View ArticleGRCh38 mapping of the 1000 Genomes low coverage data is now available
We have realigned the low coverage 1000 Genomes sequence data to GRCh38. We aligned to the full assembly including the GRC maintained alternate loci sequences and decoy and additional HLA sequences...
View ArticleSlides are now available from the #ASHG15 1000 Genomes Tutorial
You can now find the slides presented at the ASHG 2015 1000 Genomes tutorial in Baltimore on the tutorial page.If you have any questions about the contents of the slides or our data please email...
View ArticleGRCh38 mapping of the Illumina Platinum Genomes CEU pedigree
We have aligned the Illumina Platinum pedigree sequence data to GRCh38. The data was aligned to the full assembly including the GRC maintained alternate loci along with decoy and additional HLA...
View ArticleChanges to the 1000 Genomes Globus endpoint
EMBL-EBI has recently rearranged its Globus hosted endpoints.This means the Globus endpoint for 1000G data is changing from ebi#1000g to ebi#public (‘1000g’ subfolder). The old endpoint will be...
View ArticleGRCh38 alignments for Exome and High Coverage 1000 Genomes Data
We hare realigned exome data from 2692 samples and high coverage PCR-free data from 24 samples, generated for the 1000 Genomes Project to the GRCh38 human assembly.The alignment is against the full...
View ArticleAn update to the 1000 Genomes Website
We have released a major update to the 1000 Genomes Website. The 1000 Genomes Project data is now maintained by the International Genome Sample Resource (IGSR). IGSR aims to support and extend the 1000...
View ArticleModern DNA reveals ancient male population explosions linked to migration and...
An analysis of the chrY data from the 1000 Genomes Project phase 3 release has revealed punctuated bursts in human male demography. This study identified more than 65,000 variant positions from 1244...
View ArticleThe IGSR Data Portal - Beta Release
We have built a new tool to allow users to explore all the data from the 1000 Genomes Project and other groups hosted through our website and ftp site.You can access this new tool using the URL...
View ArticlePossible browser downtime
Due to necessary maintenance work, there is a possibility that our genome browser may be unavailable for a short period between 10am and 11am British Summer Time on Wednesday 7th June. We are sorry for...
View ArticleGRCh38 genome accessibility masks for 1000 Genomes data
As part of the 1000 Genomes Project, which parts of the genome were accessible to the sequencing methods being used was assessed. This was done by looking at the amount of sequence data that aligned to...
View ArticleData centre scheduled maintenance
Due to scheduled electrical maintenance in one of our data centres, there is the possibility that our services may experience interruptions between 26th and 30th August. Please email us at...
View ArticleIGSR data resources webinar
EBI is hosting a webinar providing an “Introduction to 1000 Genomes Project and IGSR data resources” on 16th November 2016. For further details and to apply for a place, visit EBI training.
View ArticleIGSR helpdesk maintenance
Due to essential maintenance, the 1000 Genomes helpdesk email will be shut down for approximately 48 hours, beginning at 9 am (BST) on 24th October. Any emails sent during this time will be held in a...
View ArticleIGSR helpdesk migration
The IGSR helpdesk at info@1000genomes.org will be closed temporarily from 5pm GMT on Thursday 24th November until 9am GMT on Monday 28th November. This is to enable migration of the system to new...
View Article1000 Genomes and IGSR data resources webinar available
A recording of the webinar “Introduction to 1000 Genomes Project and IGSR data resources”, which took place on 16th November 2016, is now available. You can find further details and view the recording...
View ArticleHelp improve access to 1000 Genomes data
We are conducting a user survey, to help us improve the accessibility of the 1000 Genomes data. The survey takes around five minutes to complete and we would welcome your participation, which will help...
View ArticleUpdated GRCh38 liftover
An updated set of files showing the 1000 Genomes phase three variation calls on GRCh38 is now available. These files are based on dbSNP 149 and a “liftover” mapping from the GRCh37 genome assembly used...
View Article1000 Genomes GRCh38 alignments published
The alignments of the 1000 Genomes data to GRCh38 the we announced previously are now described in GigaScience.Details of the alignments are available in the publication and earlier announcement but...
View ArticleAspera update
Our Aspera service is being updated. As part of this work, the service is being moved to new hardware and the configuration is being updated. The service can be used as before but command line users...
View ArticleFTP maintenance
Our FTP site will be undergoing maintenance on Friday 21st July. For part of the time that this work is in progress, read access will not be available. The maintenance is scheduled to start at 10am BST...
View ArticleVariant calls from 1000 Genomes Project data calling against GRCh38
An integrated and phased biallelic SNV call set, generated from alignments of the 1000 Genomes phase three low coverage and exome sequence data, is available on our FTP site. These calls were called...
View ArticleVariant calls from 1000 Genomes Project data on the GRCh38 reference assembly...
We have produced an extended integrated and phased biallelic SNV and INDEL call set. This uses the same input data sets as our biallelic SNV call set but now includes INDELs in the creation of the...
View ArticleInfrastructure improvements 16-20th March
To enable future expansion of EMBL-EBI’s resources and services, one of the data centres supporting our services will be moving to a new location in the period 16-20th March. The data hosted by IGSR...
View Article3,202 samples at high-coverage from NYGC
Earlier this year, the New York Genome Center (NYGC) released high-coverage (30x) data for an additional 698 samples from the 1000 Genomes Project sample collections. These 698 samples are related to...
View ArticleA variation call set obtained from the analysis of Gambian Genome Variation...
We have recently published a Data Note describing our analysis of 505 samples from four Gambian populations in the Gambian Genome Variation Project (GGVP) on GRCh38.For the analysis we have used a...
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